Incidental Mutation 'IGL01796:Aacs'
ID 155357
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aacs
Ensembl Gene ENSMUSG00000029482
Gene Name acetoacetyl-CoA synthetase
Synonyms 2210408B16Rik
Accession Numbers
Essential gene? Possibly essential (E-score: 0.654) question?
Stock # IGL01796
Quality Score
Status
Chromosome 5
Chromosomal Location 125552937-125594469 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 125590273 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 511 (Y511H)
Ref Sequence ENSEMBL: ENSMUSP00000031445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031445]
AlphaFold Q9D2R0
Predicted Effect probably damaging
Transcript: ENSMUST00000031445
AA Change: Y511H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031445
Gene: ENSMUSG00000029482
AA Change: Y511H

DomainStartEndE-ValueType
Pfam:ACAS_N 47 105 1.1e-11 PFAM
Pfam:AMP-binding 103 546 1.7e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131355
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144361
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196556
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200286
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,849,743 (GRCm39) Y1948D probably damaging Het
Adgrl2 C A 3: 148,564,611 (GRCm39) G319V probably damaging Het
Adgrv1 T A 13: 81,715,461 (GRCm39) D909V probably benign Het
Anapc16 T C 10: 59,824,579 (GRCm39) E119G possibly damaging Het
C1qtnf12 T C 4: 156,050,886 (GRCm39) V285A possibly damaging Het
Cbr1 A C 16: 93,405,119 (GRCm39) N89T probably damaging Het
Cdh23 T A 10: 60,146,916 (GRCm39) Q2778L probably benign Het
Clca4c-ps A G 3: 144,595,340 (GRCm39) noncoding transcript Het
Cst9 T C 2: 148,677,269 (GRCm39) F47L probably damaging Het
Dqx1 T C 6: 83,043,408 (GRCm39) probably benign Het
Dus4l T C 12: 31,692,794 (GRCm39) S150G probably benign Het
E2f2 A T 4: 135,907,728 (GRCm39) K142* probably null Het
Eif2ak4 T A 2: 118,276,785 (GRCm39) H169Q probably benign Het
Fmo9 C T 1: 166,490,904 (GRCm39) A525T probably benign Het
Gm42878 T C 5: 121,683,247 (GRCm39) D6G probably benign Het
Igfals A G 17: 25,099,056 (GRCm39) Y49C probably damaging Het
Il22b T C 10: 118,126,069 (GRCm39) N176S possibly damaging Het
Ipo7 T C 7: 109,629,055 (GRCm39) probably benign Het
Itga1 T C 13: 115,121,657 (GRCm39) E784G probably damaging Het
Jcad G T 18: 4,672,855 (GRCm39) E206* probably null Het
Kif24 A T 4: 41,392,978 (GRCm39) probably benign Het
Lrrc2 T A 9: 110,809,886 (GRCm39) probably null Het
Ltbp1 A G 17: 75,534,240 (GRCm39) probably benign Het
Man2c1 C T 9: 57,045,244 (GRCm39) T451I possibly damaging Het
Manba T A 3: 135,248,150 (GRCm39) N346K probably damaging Het
Nell1 T C 7: 49,825,964 (GRCm39) probably benign Het
Nfat5 T C 8: 108,094,273 (GRCm39) V744A probably damaging Het
Nms T C 1: 38,985,192 (GRCm39) M98T possibly damaging Het
Nos1 A T 5: 118,076,339 (GRCm39) K1120* probably null Het
Or11g25 C A 14: 50,722,998 (GRCm39) Q28K probably benign Het
Plekho1 C T 3: 95,898,147 (GRCm39) R172H probably damaging Het
Pot1b A T 17: 55,976,750 (GRCm39) C391S possibly damaging Het
Scn1a G A 2: 66,162,645 (GRCm39) probably benign Het
Sgce T G 6: 4,711,326 (GRCm39) N149H probably damaging Het
Slc45a1 A G 4: 150,728,426 (GRCm39) W126R probably damaging Het
Slc9a1 G A 4: 133,147,404 (GRCm39) probably benign Het
Tmem131l T A 3: 83,845,362 (GRCm39) K423* probably null Het
Tnrc18 C T 5: 142,750,642 (GRCm39) E1444K possibly damaging Het
Tpp1 T C 7: 105,396,857 (GRCm39) probably benign Het
Trip12 A C 1: 84,705,999 (GRCm39) S610R probably benign Het
Ushbp1 G T 8: 71,840,076 (GRCm39) A525E probably benign Het
Vmn2r106 A T 17: 20,488,314 (GRCm39) M695K possibly damaging Het
Vmn2r118 A G 17: 55,915,585 (GRCm39) I455T probably benign Het
Zbtb41 T C 1: 139,370,621 (GRCm39) F686S probably damaging Het
Other mutations in Aacs
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00094:Aacs APN 5 125,591,254 (GRCm39) missense probably benign 0.00
IGL00155:Aacs APN 5 125,590,235 (GRCm39) missense probably damaging 1.00
IGL00906:Aacs APN 5 125,580,338 (GRCm39) missense probably benign 0.00
IGL00910:Aacs APN 5 125,585,772 (GRCm39) missense probably benign 0.00
IGL01613:Aacs APN 5 125,589,716 (GRCm39) missense possibly damaging 0.48
IGL02155:Aacs APN 5 125,583,350 (GRCm39) missense probably null 1.00
IGL02585:Aacs APN 5 125,592,121 (GRCm39) missense possibly damaging 0.78
IGL03218:Aacs APN 5 125,561,727 (GRCm39) splice site probably null
PIT4283001:Aacs UTSW 5 125,561,719 (GRCm39) missense probably damaging 0.99
R0328:Aacs UTSW 5 125,593,323 (GRCm39) missense probably benign 0.00
R1478:Aacs UTSW 5 125,580,287 (GRCm39) missense possibly damaging 0.94
R1511:Aacs UTSW 5 125,592,041 (GRCm39) missense probably benign 0.00
R1544:Aacs UTSW 5 125,593,394 (GRCm39) missense possibly damaging 0.82
R1616:Aacs UTSW 5 125,561,590 (GRCm39) splice site probably null
R1709:Aacs UTSW 5 125,566,942 (GRCm39) missense probably benign 0.00
R1725:Aacs UTSW 5 125,559,999 (GRCm39) critical splice donor site probably null
R2424:Aacs UTSW 5 125,590,159 (GRCm39) splice site probably null
R2472:Aacs UTSW 5 125,583,316 (GRCm39) missense probably damaging 1.00
R3612:Aacs UTSW 5 125,580,251 (GRCm39) missense probably damaging 1.00
R3732:Aacs UTSW 5 125,583,326 (GRCm39) missense probably damaging 0.99
R3766:Aacs UTSW 5 125,583,326 (GRCm39) missense probably damaging 0.99
R4740:Aacs UTSW 5 125,583,316 (GRCm39) missense probably damaging 1.00
R4911:Aacs UTSW 5 125,583,224 (GRCm39) missense possibly damaging 0.68
R5433:Aacs UTSW 5 125,592,078 (GRCm39) missense probably benign 0.01
R5477:Aacs UTSW 5 125,588,984 (GRCm39) missense probably damaging 1.00
R5863:Aacs UTSW 5 125,580,287 (GRCm39) missense possibly damaging 0.88
R6919:Aacs UTSW 5 125,583,227 (GRCm39) missense probably benign 0.35
R6943:Aacs UTSW 5 125,583,362 (GRCm39) critical splice donor site probably null
R7543:Aacs UTSW 5 125,559,920 (GRCm39) missense probably damaging 1.00
R7874:Aacs UTSW 5 125,583,271 (GRCm39) missense possibly damaging 0.60
R7923:Aacs UTSW 5 125,588,948 (GRCm39) missense probably damaging 1.00
R9667:Aacs UTSW 5 125,580,691 (GRCm39) missense possibly damaging 0.95
Posted On 2014-02-04